RAD50

Description		RAD50 double strand break repair protein
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GO Annotations	Cellular Component	Nuclear Chromosome, Telomeric Region Nuclear Chromatin Condensed Nuclear Chromosome Nucleoplasm Membrane Mre11 Complex Site Of Double-strand Break
	Molecular Function	Single-stranded DNA Endodeoxyribonuclease Activity DNA Binding DNA Helicase Activity Double-stranded Telomeric DNA Binding Adenylate Kinase Activity Protein Binding ATP Binding 3'-5' Exonuclease Activity Protein Binding, Bridging Identical Protein Binding Single-stranded Telomeric DNA Binding Metal Ion Binding G-quadruplex DNA Binding
	Biological Process	Regulation Of Mitotic Recombination Telomere Maintenance Via Recombination Telomere Maintenance Double-strand Break Repair Via Homologous Recombination DNA Double-strand Break Processing DNA Replication DNA Repair Double-strand Break Repair Double-strand Break Repair Via Nonhomologous End Joining DNA Recombination Cellular Response To DNA Damage Stimulus Telomere Maintenance Via Telomerase Reciprocal Meiotic Recombination Viral Process Telomere Capping Telomeric 3' Overhang Formation Positive Regulation Of Protein Autophosphorylation Positive Regulation Of Telomere Maintenance DNA Duplex Unwinding Positive Regulation Of Kinase Activity Nucleoside Monophosphate Phosphorylation Chromosome Organization Involved In Meiotic Cell Cycle Nucleic Acid Phosphodiester Bond Hydrolysis Regulation Of Signal Transduction By P53 Class Mediator Negative Regulation Of Telomere Capping
Pathways		DNA Damage/Telomere Stress Induced Senescence HDR through Single Strand Annealing (SSA) HDR through MMEJ (alt-NHEJ) HDR through Homologous Recombination (HRR) Sensing of DNA Double Strand Breaks Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks Resolution of D-loop Structures through Holliday Junction Intermediates Nonhomologous End-Joining (NHEJ) Homologous DNA Pairing and Strand Exchange Processing of DNA double-strand break ends Presynaptic phase of homologous DNA pairing and strand exchange Regulation of TP53 Activity through Phosphorylation G2/M DNA damage checkpoint Meiotic recombination
Drugs
Diseases		DNA repair defects, including the following six diseases: Ataxia telangiectasia (AT); Ataxia-talangiectasia-like syndrome; Nijmegen syndrome; DNA ligase I deficiency; DNA ligase IV deficiency; Bloom's syndrome
GWAS		Allergic disease (asthma, hay fever or eczema) ( 29083406) Allergic rhinitis ( 30013184) Asthma ( 20159242 30929738 27611488 27182965 31619474 29273806) Asthma (childhood onset) ( 30929738 24241537 29273806) Asthma (moderate or severe) ( 30552067) Asthma onset (childhood vs adult) ( 30929738) Asthma or allergic disease (pleiotropy) ( 29785011) Atopic dermatitis ( 23886662 25865352 25574825 26482879) Eosinophil counts ( 29403010 27863252) Eosinophil percentage of granulocytes ( 27863252) Eosinophil percentage of white cells ( 27863252) IgE levels ( 18846228) Inflammatory skin disease ( 25574825) Itch intensity from mosquito bite ( 28199695) Neutrophil percentage of white cells ( 27863252) Polycystic ovary syndrome ( 30566500 26416764) Rosacea symptom severity ( 29771307) Sum eosinophil basophil counts ( 27863252) Venous thromboembolism adjusted for sickle cell variant rs77121243-T ( 28203683)
Interacting Genes		10 interacting genes: DCLRE1C EP300 MDC1 MRE11 NBN RECQL5 RINT1 SUMO2 TERF2IP TP53BP1
Entrez ID		10111
HPRD ID		04950
Ensembl ID		ENSG00000113522
Uniprot IDs		A5D6Y3 Q92878
PDB IDs		5GOX
Enriched GO Terms of Interacting Partners?
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